Canonical Allele Identifier: CA354582974
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132700366A>G , CM000665.2:g.132700366A>G GRCh38
NC_000003.11:g.132419210A>G , CM000665.1:g.132419210A>G GRCh37
NC_000003.10:g.133901900A>G NCBI36
NG_008130.1:g.27067T>C
NG_008130.2:g.27067T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684294.1:c.1417T>C (NPHP3) ENSP00000508078.1:p.Ser473Pro
ENST00000337331.10:c.1711T>C (NPHP3) MANE Select ENSP00000338766.5:p.Ser571Pro
ENST00000337331.9:c.1711T>C (NPHP3) ENSP00000338766.5:p.Ser571Pro
ENST00000465756.5:c.1417T>C (NPHP3) ENSP00000419907.1:p.Ser473Pro
ENST00000469232.5:c.1526T>C (NPHP3) ENSP00000418664.1:n.1526T>C
ENST00000471702.2:c.1711T>C (NPHP3-ACAD11) ENSP00000419763.1:p.Ser571Pro
ENST00000490993.5:n.1487T>C (NPHP3)
NM_153240.4:c.1711T>C (NPHP3) NP_694972.3:p.Ser571Pro
NR_037804.1:n.1815T>C (NPHP3-ACAD11)
NM_153240.5:c.1711T>C (NPHP3) MANE Select NP_694972.3:p.Ser571Pro